Living with COG8-congenital disorder of glycosylation
An inherited condition with severe developmental delay, poor growth, and trouble with wheat and dairy foods.
Understanding COG8-congenital disorder of glycosylation
CDG syndromes are a group of autosomal recessive disorders that affect how sugars attach to proteins. GARD lists onset in childhood. Listed features include poor coordination, nerve problems, low muscle tone in infancy, and loss of skills already learned.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Long-lasting nerve damage
- Low muscle tone in infancy
- Poor weight gain
- Food intolerance
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in COG8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the COG8 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type iih; cdg iih; cdg syndrome type iih; cdg-iih; cdg2h; cog8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation
Patient organizations
- CDG CARECOG8-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with COG8-congenital disorder of glycosylation.
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